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Publication : Severe phenotype in mice with termination mutation in exon 2 of cystic fibrosis gene.

First Author  Hasty P Year  1995
Journal  Somat Cell Mol Genet Volume  21
Issue  3 Pages  177-87
PubMed ID  7482032 Mgi Jnum  J:29656
Mgi Id  MGI:77181 Doi  10.1007/BF02254769
Citation  Hasty P, et al. (1995) Severe phenotype in mice with termination mutation in exon 2 of cystic fibrosis gene. Somat Cell Mol Genet 21(3):177-87
abstractText  Mice with a termination codon mutation in exon 2 of the cystic fibrosis (CF) gene were generated using homologous recombination in embryonic stem cells. Animals homozygous for the mutant allele display a severe intestinal phenotype similar to that previously reported for CF mutant mice. The null nature of this allele was demonstrated by the absence of detectable wild-type mRNA, by the absence of detectable CFTR in the serous gland collecting ducts of salivary tissues, and by the lack of cAMP-mediated short-circuit current responses in colonic epithelium of mutant animals.
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